Genotype-phenotype correlations in patients with pathogenic/likely pathogenic titin variants from the Swiss Arrhythmogenic Cardiomyopathy Registry.

doi:10.1136/openhrt-2025-003750

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Article

Genotype-phenotype correlations in patients with pathogenic/likely pathogenic titin variants from the Swiss Arrhythmogenic Cardiomyopathy Registry.

Open heart - 31 Mar 2026

Schätti Nina Alissa, Fokstuen Siv, Medeiros-Domingo Argelia, Maccio Umberto, Nägele Matthias P, Mikulicic Fran, Flammer Andreas J, Sazgary Lorraine, Manka Robert, Wilzeck Verena Charlotte, Tanner Felix, Grebmer Christian, Vischer Annina Salome, Odening Katja E, Rieder Marina, Ruschitzka Frank, Brunckhorst Corinna, Duru Firat, Saguner Ardan M, Bonetti Nicole R

Abstract excerpt

BACKGROUND: Truncating variants in the titin gene (TTNtv) are associated with cardiomyopathy, mainly dilated cardiomyopathy (DCM). The clinical presentation and outcomes of arrhythmogenic phenotypes in these patients are scarcely studied. METHODS AND RESULTS: This was a retrospective Swiss national study including 46 cardiomyopathy patients with pathogenic/likely pathogenic (P/LP) TTNtv. 63% were male and median...

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PMID: 41916669
DOI: 10.1136/openhrt-2025-003750
PMCID: PMC13052549

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